C6597A-F1

**Figure 1\. Pedigree diagram for family C6597A\-F1\.**

![](/media/202606/20260626162731454940.png)

# Pedigree Information

| **No.** | **Position** | **Variant** | **Family ID** | **Nationality** | **Diseases** | **Unaffected Maternal Relatives** | **Affected Maternal Relatives** | **Publication Year** | **PMID/Ref** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6597 | m.6597C\>A | C6597A\-F1 | Italian | MELAS\-like syndrome | 3 | 0 | 2012 | [22832341](https://pubmed.ncbi.nlm.nih.gov/22832341/) |  |

The **m.6597C\>A** variant in MT\-CO1 was reported in family C6597A\-F1 from Italian with melas\-like syndrome. The pedigree record reported 3 unaffected and 0 affected maternal relatives, and the carrier table includes 4 listed carriers. Homoplasmy was reported in 0/4 listed carriers; 1/4 carriers were affected, and the main clinical manifestation among affected carriers was melas\-like syndrome, seizures, severe hearing loss, migraine, exercise intolerance, myalgia, limb\-girdle weakness.

# Carrier Information

| **No.** | **Position** | **Variant** | **Family ID** | **Carrier ID** | **Type (Fam/De novo/Uninf)** | **Gender (F/M)** | **Proband (Y/N)** | **Affected (Y/N)** | **Die/Alive(D/A)** | **Age** | **Blood Mutant Level** | **Muscle Mutant level** | **Urine Mutant level** | **Other Mutant level** | **Clinical Features** | **Note** |
| --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- | --- |
| 1 | 6597 | m.6597C\>A | C6597A\-F1 | C6597A\-F1\-II3 | De novo | F | Y | Y | A | 35 | 30% | 95% | 70% | 40%(F) | MELAS\-like syndrome; seizures; severe hearing loss; migraine; exercise intolerance; myalgia; limb\-girdle weakness |  |
| 2 | 6597 | m.6597C\>A | C6597A\-F1 | C6597A\-F1\-III1 | Fam | M | N | N | A | ND | / | / | 0% | / | Healthy |  |
| 3 | 6597 | m.6597C\>A | C6597A\-F1 | C6597A\-F1\-III2 | Fam | F | N | N | A | ND | / | / | 0% | / | Healthy |  |
| 4 | 6597 | m.6597C\>A | C6597A\-F1 | C6597A\-F1\-III3 | Fam | M | N | N | A | ND | / | / | 0% | / | Healthy |  |

For abbreviations and other usage instructions, please see [Mitofam Info](https://mitofam.com/doc/385/).